ORIGINAL ARTICLE   

Journal of Neurosurgical Sciences 2021 February;65(1):8-13

DOI: 10.23736/S0390-5616.18.04284-4

Copyright © 2018 EDIZIONI MINERVA MEDICA

language: English

Blood-tissue analysis of TP53 polymorphisms and survival of patients with glioma

Pier Paolo PANCIANI ¹ ✉, Maria T. GIORDANA ², Salvatore GALLONE ³, Andrea MURATORI ⁴, Rosaria ROTUNNO ⁵, Karol MIGLIORATI ⁴, Giannantonio SPENA ¹, Alessandro DUCATI ⁶, Marco FONTANELLA ⁴

¹ Unit of Neurosurgery, ASST Spedali Civili di Brescia, Brescia, Italy; ² Clinic of Neurosurgery, Department of Neurosciences, University of Turin, Turin, Italy; ³ Unit of Clinical Neurogenetics, Department of Neurosciences, University of Turin, Turin, Italy; ⁴ Unit of Neurosurgery, Department of Medical-Surgical Specialties, Radiological Sciences and Public Health, University of Brescia, Brescia, Italy; ⁵ Unit of Neurosurgery, Fondazione Poliambulanza di Brescia, Brescia, Italy; ⁶ Unit of Neurosurgery, Department of Neurosciences, University of Turin, Turin, Italy

BACKGROUND: The role of single nucleotide polymorphisms (SNPs) in TP53 in the pathogenesis of glioma is still debated. The aim of our study was to investigate the role of several TP53 SNPs in the risk of glioma and their possible role as prognostic biomarkers of overall and progression-free survival.
METHODS: We examined 12 SNPs in TP53 from peripheral blood and neoplastic tissue of patients with a diagnosis of glioma who underwent surgery from 2012 to 2015. Direct genomic sequencing of TP53 was performed to detect the presence of polymorphisms. We compared data with a matched cancer-free control group and the NCBI SNPs database. Overall and progression-free survival were analyzed in patients with glioblastoma subjected to gross total resection and concomitant radio-chemotherapy.
RESULTS: No association was observed with glioma susceptibility and overall survival. Two new SNPs were detected: c.97-46 G>A (intron 3) and c.783-31 A>G (intron 7). The number of SNPs observed was higher (21.4%) in blood than in tumoral samples. We observed a significant reduction in progression-free survival in patients with at least one exonic SNP.
CONCLUSIONS: We can hypothesize an involvement of TP53 SNPs in response mechanisms to adjuvant treatment that may affect progression-free survival. Moreover, our blood-tissue combined study revealed a significant difference in SNPs between blood and tumoral samples, probably due to glioma heterogeneity and genomic instability.

KEY WORDS: Polymorphism, genetic; Glioma; Disease susceptibility; Survival